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DisGeNET
DisGeNET is a knowledge management platform that integrates and standardizes the data of genes and mutations related to diseases from multiple sources. It covers entire range of human disease.
| Source | Last Updated |
|---|---|
| DisGeNET | July 29, 2024 |
| Disease ID | Disease Name ▲ | Gene Symbol | Gene ID | Gene Name | UniProt ID |
|---|---|---|---|---|---|
| C4048306 | Multiple endocrine neoplasia Type 2 | SDHB | 6390 | succinate dehydrogenase complex iron sulfur subunit B | P21912 |
| C4048306 | Multiple endocrine neoplasia Type 2 | SDHC | 6391 | succinate dehydrogenase complex subunit C | Q99643 |
| C4048306 | Multiple endocrine neoplasia Type 2 | SDHD | 6392 | succinate dehydrogenase complex subunit D | O14521 |
| C4048306 | Multiple endocrine neoplasia Type 2 | GFRA4 | 64096 | GDNF family receptor alpha 4 | Q9GZZ7 |
| C4048306 | Multiple endocrine neoplasia Type 2 | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0265261 | Multiple pterygium syndrome | GBE1 | 2632 | 1,4-alpha-glucan branching enzyme 1 | Q04446 |
| C0265261 | Multiple pterygium syndrome | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C0026780 | Mumps | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0026780 | Mumps | MRC1 | 4360 | mannose receptor C-type 1 | P22897 |
| C0026780 | Mumps | IL18R1 | 8809 | interleukin 18 receptor 1 | Q13478 |
| C0026780 | Mumps | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C0026846 | Muscular Atrophy | MTMR4 | 9110 | myotubularin related protein 4 | Q9NYA4 |
| C0026846 | Muscular Atrophy | DAG1 | 1605 | dystroglycan 1 | Q14118 |
| C0686353 | Muscular Dystrophies, Limb-Girdle | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0686353 | Muscular Dystrophies, Limb-Girdle | FKTN | 2218 | fukutin | O75072 |
| C0686353 | Muscular Dystrophies, Limb-Girdle | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0686353 | Muscular Dystrophies, Limb-Girdle | DPM3 | 54344 | dolichyl-phosphate mannosyltransferase subunit 3, regulatory | Q9P2X0 |
| C0686353 | Muscular Dystrophies, Limb-Girdle | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
| C0686353 | Muscular Dystrophies, Limb-Girdle | POGLUT1 | 56983 | protein O-glucosyltransferase 1 | Q8NBL1 |
| C0686353 | Muscular Dystrophies, Limb-Girdle | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0686353 | Muscular Dystrophies, Limb-Girdle | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
| C0686353 | Muscular Dystrophies, Limb-Girdle | POMGNT2 | 84892 | protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Q8NAT1 |
| C0686353 | Muscular Dystrophies, Limb-Girdle | GNE | 10020 | glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Q9Y223 |
| C0686353 | Muscular Dystrophies, Limb-Girdle | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C0686353 | Muscular Dystrophies, Limb-Girdle | PYGM | 5837 | glycogen phosphorylase, muscle associated | P11217 |
